A 5-year-old boy has a 6×4 cm vascular birthmark on the face present since birth, which is flat, does not blanch completely, and has a port-wine stain appearance. He has ipsilateral glaucoma and seizures. MRI brain shows leptomeningeal enhancement. What is the diagnosis and the most important long-term complication?

• A Hemangioma of infancy; risk of high-output cardiac failure
• B Klippel-Trenaunay syndrome; risk of deep vein thrombosis
• C Sturge-Weber syndrome (encephalotrigeminal angiomatosis); progressive neurological deterioration and intractable epilepsy ✓
• D Cutis marmorata telangiectatica congenita; spontaneous resolution

Explanation

Sturge-Weber syndrome (SWS) is a neurocutaneous disorder (phakomatosis) caused by somatic (post-zygotic) GNAQ mutations. The hallmark is a facial port-wine stain (naevus flammeus) in the V1 (ophthalmic) distribution of the trigeminal nerve, ipsilateral leptomeningeal angioma, and ipsilateral glaucoma. The leptomeningeal angioma leads to cortical ischemia, progressive calcifications (tram-track calcifications on plain X-ray/CT), and intractable epilepsy, often followed by hemiplegia and intellectual disability. The most important long-term concerns are intractable seizures (present in 75–90%) and progressive neurological deterioration. Infantile hemangiomas are absent at birth and appear at 1–4 weeks (not present from birth). Klippel-Trenaunay involves port-wine stain + limb hypertrophy + varicosities.

Reference: Ghai Essential Pediatrics, 10th ed.

High-yield for: NEET PGINI-CETNExTFMGEUSMLEPLABMRCP

Written and medically reviewed by the StethoPrep medical team.